Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00236:Alkbh1'

2183

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Alkbh1

Ensembl Gene

ENSMUSG00000079036

Gene Name

alkB homolog 1, histone H2A dioxygenase

Synonyms

Nrp, alkB, Alkbh

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

IGL00236

Quality Score

Status

Chromosome

Chromosomal Location

87474847-87490609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87490467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 43 (V43A)

Ref Sequence

ENSEMBL: ENSMUSP00000124565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077462] [ENSMUST00000159079] [ENSMUST00000160113] [ENSMUST00000160488] [ENSMUST00000162961] [ENSMUST00000162986] [ENSMUST00000161712] [ENSMUST00000162247] [ENSMUST00000185301] [ENSMUST00000161023]

AlphaFold

P0CB42

Predicted Effect

probably benign
Transcript: ENSMUST00000077462

SMART Domains

Protein: ENSMUSP00000076673
Gene: ENSMUSG00000021040

Domain	Start	End	E-Value	Type
RRM	18	82	1.08e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091090

SMART Domains

Protein: ENSMUSP00000088619
Gene: ENSMUSG00000021041

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159079
AA Change: V43A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124445
Gene: ENSMUSG00000079036
AA Change: V43A

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160113
AA Change: V43A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124691
Gene: ENSMUSG00000079036
AA Change: V43A

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160488

SMART Domains

Protein: ENSMUSP00000124174
Gene: ENSMUSG00000021040

Domain	Start	End	E-Value	Type
RRM	20	92	2.41e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160850

Predicted Effect

probably benign
Transcript: ENSMUST00000160880

SMART Domains

Protein: ENSMUSP00000125727
Gene: ENSMUSG00000021040

Domain	Start	End	E-Value	Type
Blast:RRM	15	47	6e-17	BLAST
SCOP:d1u2fa_	17	59	2e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162961
AA Change: V43A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124565
Gene: ENSMUSG00000079036
AA Change: V43A

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Pfam:2OG-FeII_Oxy_2	98	344	6.7e-38	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162986
AA Change: V43A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125372
Gene: ENSMUSG00000079036
AA Change: V43A

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161712
AA Change: V43A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124933
Gene: ENSMUSG00000079036
AA Change: V43A

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162247
AA Change: V43A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124360
Gene: ENSMUSG00000079036
AA Change: V43A

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000185301

SMART Domains

Protein: ENSMUSP00000140233
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160919

Predicted Effect

probably benign
Transcript: ENSMUST00000161023

SMART Domains

Protein: ENSMUSP00000125341
Gene: ENSMUSG00000021040

Domain	Start	End	E-Value	Type
RRM	20	92	1.73e-18	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show delayed fetal growth, impaired placental development and low birth weight. Mice homozygous for another null allele show sex-ratio distortion, reduced survival, spermatogenic defects and incompletely penetrant eye, neural tube, skeleton and craniofacial defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	T	5: 90,381,787 (GRCm39)	S2460T	probably damaging	Het
Ap4e1	T	C	2: 126,870,201 (GRCm39)	L176P	probably damaging	Het
Caprin2	A	G	6: 148,744,569 (GRCm39)	I952T	probably damaging	Het
Cdkl4	A	T	17: 80,832,705 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,227,767 (GRCm39)	L156P	probably damaging	Het
Dock9	A	G	14: 121,905,880 (GRCm39)	L90S	probably benign	Het
Efhb	T	C	17: 53,769,481 (GRCm39)	D276G	probably damaging	Het
Ep300	A	G	15: 81,525,619 (GRCm39)	D1481G	unknown	Het
Fam83b	T	C	9: 76,398,260 (GRCm39)	I948V	probably benign	Het
Fbxl5	G	T	5: 43,922,678 (GRCm39)	H247N	probably damaging	Het
Fn1	A	G	1: 71,692,032 (GRCm39)	I37T	probably benign	Het
Hfe	C	T	13: 23,889,835 (GRCm39)		probably benign	Het
Ighv1-36	A	T	12: 114,843,770 (GRCm39)	L29Q	possibly damaging	Het
Inpp5e	G	T	2: 26,298,533 (GRCm39)	Q23K	probably benign	Het
L3mbtl1	T	C	2: 162,808,983 (GRCm39)	S619P	probably damaging	Het
Myh8	T	C	11: 67,174,644 (GRCm39)	I253T	probably damaging	Het
Ntrk1	C	T	3: 87,698,745 (GRCm39)	V99M	possibly damaging	Het
Or51s1	T	C	7: 102,558,479 (GRCm39)	H189R	probably damaging	Het
Or5b124	A	T	19: 13,610,903 (GRCm39)	I143F	probably benign	Het
Pard6a	T	C	8: 106,429,446 (GRCm39)	S135P	probably damaging	Het
Prss43	G	T	9: 110,658,538 (GRCm39)	Q279H	probably benign	Het
Ptcd2	T	C	13: 99,466,573 (GRCm39)	N207D	probably benign	Het
Ros1	T	C	10: 52,070,986 (GRCm39)	I23V	probably benign	Het
Scg5	A	G	2: 113,657,915 (GRCm39)		probably benign	Het
Sh3bp5	T	A	14: 31,101,347 (GRCm39)	K212*	probably null	Het
Slc25a30	C	T	14: 76,004,365 (GRCm39)	G244D	possibly damaging	Het
Slc38a10	T	C	11: 119,997,428 (GRCm39)	R689G	probably damaging	Het
Spatc1	A	G	15: 76,168,994 (GRCm39)	D321G	probably damaging	Het
Stat4	A	T	1: 52,142,037 (GRCm39)	Y628F	probably damaging	Het
Wdr35	G	A	12: 9,069,900 (GRCm39)	V813I	probably benign	Het

Other mutations in Alkbh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03111:Alkbh1	APN	12	87,480,907 (GRCm39)	missense	probably damaging	1.00
IGL03264:Alkbh1	APN	12	87,478,197 (GRCm39)	missense	probably damaging	1.00
R1439:Alkbh1	UTSW	12	87,475,915 (GRCm39)	missense	probably damaging	1.00
R2056:Alkbh1	UTSW	12	87,490,520 (GRCm39)	unclassified	probably benign
R2058:Alkbh1	UTSW	12	87,490,520 (GRCm39)	unclassified	probably benign
R2059:Alkbh1	UTSW	12	87,490,520 (GRCm39)	unclassified	probably benign
R4565:Alkbh1	UTSW	12	87,478,236 (GRCm39)	missense	probably damaging	1.00
R5712:Alkbh1	UTSW	12	87,475,883 (GRCm39)	missense	probably benign	0.05
R6291:Alkbh1	UTSW	12	87,475,864 (GRCm39)	missense	possibly damaging	0.67
R7593:Alkbh1	UTSW	12	87,487,095 (GRCm39)	nonsense	probably null
R7776:Alkbh1	UTSW	12	87,478,215 (GRCm39)	missense	probably damaging	1.00
R8542:Alkbh1	UTSW	12	87,478,275 (GRCm39)	missense	probably damaging	1.00
R8723:Alkbh1	UTSW	12	87,485,278 (GRCm39)	missense	probably benign	0.10
R9363:Alkbh1	UTSW	12	87,487,080 (GRCm39)	nonsense	probably null

Posted On

2011-12-09